Profile of Dr Child
Reader in Cardiovascular Genetics/Honorary Consultant Cardiology and Genetics
St George’s, University of London and NHS Hospital Trust
Dr Child graduated in Medicine from the University of Toronto in 1966, specialising in paediatrics studied in Vancouver, New York and San Francisco. A growing interest in prevention of disease through genetic counselling and early diagnosis lead her to specialise in clinical genetics, firstly in Montreal (McGill University), then at the Institute of Child Health, Hospital for Sick Children, London
Counselling experience and an interest in Marfan syndrome were gained in the Paediatric Research Unit at Guy’s Hospital, and entry into the field of Marfan syndrome research commenced. She holds twice weekly diagnostic clinics at St George’s Hospital, Tooting, South London.
Dr Child is the author of over 100 peer-reviewed articles and invited contributions. Her wide-ranging literature written for different specialties involved in the care of Marfan syndrome patients has been distributed to these specialties throughout the UK, and indeed worldwide. This work has also been translated into every major European language and made available to European patients and physicians through the chain of Marfan syndrome support groups, which Dr Child has helped to establish. She co-founded the Marfan Association UK to improve patient service and support, and co-founded the Marfan Trust UK to ensure that research funds would be available for an ambitious research programme to discover the cause and best treatment of Marfan syndrome.
Dr Child’s research has focused on:
- Methods of clinical diagnosis of Marfan syndrome and differentiation from overlapping syndromes
- Best genetic, medical and surgical management of Marfan syndrome
- Genotype - phenotype correlation in Marfan syndrome
In 1983 Dr Child was awarded an M.Phil. in Medical Genetics at the University of London for elucidating the modes of inheritance of three types of congenital structural heart disease (hypoplastic left heart syndrome, endocardial fibroelastosis and Kartagener syndrome). Although familial recurrence risks were ascertained, molecular genetic techniques were not available to isolate the causative genes at that time.
In 1988 Dr Child was awarded an M.D. (University of Leicester) for her published works dealing with non-invasive ultrasound measurements of the aortic wall in Marfan syndrome and three overlapping connective tissue disorders. With the advent of molecular genetics, the field of cardiovascular research was revolutionised. Between 1987 and the present, national databases of families with early coronary artery disease, Marfan syndrome, Joint Hypermobility syndrome, ectopia lentis, primary lymphoedema, primary lipoedema, primary glaucoma, mitral valve prolapse, adolescent idiopathic scoliosis and abdominal aortic aneurysms have been established and maintained with funding from British Heart Foundation, Arthritis and Rheumatism Council, Medical Research Council, British Scoliosis Research Foundation, National Eye Institute (USA), Royal National Institute for the Blind ( UK), Marfan Trust and Marfan Association (UK), Henry Smith Charity, Abbeydale Trust, London Law Trust, Rosetrees Trust, St George’s, University of London and NHS Trust and private individuals. From these databases, 5 major disease causing genes have been identified.
Clinical publications based on the Marfan syndrome database are wide ranging, including manifestations of eye disease, heart, lung and musculoskeletal disorders. A recent publication demonstrated fibrillin-1 deficiency in skeletal muscle in a patient with generalised muscular weakness. The discovery that ectopia lentis patients have a different type of mutation and a much better long-term prognosis from the cardiac point of view was also published. Special investigation of the 8% of families who do not demonstrate Marfan syndrome mutation in exons 1-65, is underway.
At present mutations are found in 92% of classical Marfan syndrome patients. Each mutation with its clinical features, is reported to the international database of over 600 mutations, of which over 200 were discovered in our Sonalee Laboratory. Mutations are used for screening at risk family members and providing antenatal screening of babies, or screening of pre-embroys prior to implantation (PGD or pre-implantation genetic diagnosis).
Practical research projects include a national drug trial, cardiac ultrasound study of patients with known mutations; mutation study of patients with ectopia lentis; study of cardiac arrhythmia in Marfan syndrome children and adults; new genes for aorticaneurysms.